 | This article needs additional citations for verification .(September 2018) |
| Carey Fineman Ziter syndrome | |
|---|---|
 | |
| Autosomal recessive pattern is the inheritance manner of this condition | |
| Specialty | Medical genetics |
Carey Fineman Ziter syndrome is a rare genetic condition. Fewer than 10 cases have been reported in the literature. [1]
Several features have been described in this syndrome. These include:
Mutations in the gene Myomaker (MYMK) have been shown to be responsible for this condition. [2] The gene is located on the long arm of chromosome 9 (9q34.2). Inheritance is autosomal recessive.
The Myomaker gene encodes a transmembrane protein that is found on the surface of muscle cells. Mutations in this protein result in failure of myoblast fusion. [2] [3]
Diagnosis is made by sequencing the MYMK gene.
Previously diagnosis could be made on clinical features, though brain anomalies could only be determined with an MRI. [4]
There is no curative treatment known. Management is supportive.
The condition was first described in 1982. [5]
Jordan River Anderson, born in 1999 in and died in 2005, was diagnosed with Carey Fineman Ziter syndrome and lived his entire life in hospital in Winnipeg, Manitoba, Canada. There were plans for him to live outside hospital with family but funding was subject to a jurisdictional dispute between the federal government of Canada and the provincial government of Manitoba because the federal government has financial responsibilities for health and education of Indigenous First Nations people in particular. Jordan became the namesake of Jordan's Principle in Canadian First Nations policy, stipulating that government-funded public services should be to First Nations children promptly and work out later which level of government will ultimately pay for any services whose funding is in dispute. Jordan River Anderson, the Messenger is a 2019 documentary film about Jordan and the campaign for and enactment of the principle.
MELAS is one of the family of mitochondrial diseases, which also include MIDD, MERRF syndrome, and Leber's hereditary optic neuropathy. It was first characterized under this name in 1984. A feature of these diseases is that they are caused by defects in the mitochondrial genome which is inherited purely from the female parent. The most common MELAS mutation is mitochondrial mutation, mtDNA, referred to as m.3243A>G.
Centronuclear myopathies (CNM) are a group of congenital myopathies where cell nuclei are abnormally located in the center of muscle cells instead of their normal location at the periphery.
MERRF syndrome is a mitochondrial disease. It is extremely rare, and has varying degrees of expressivity owing to heteroplasmy. MERRF syndrome affects different parts of the body, particularly the muscles and nervous system. The signs and symptoms of this disorder appear at an early age, generally childhood or adolescence. The causes of MERRF syndrome are difficult to determine, but because it is a mitochondrial disorder, it can be caused by the mutation of nuclear DNA or mitochondrial DNA. The classification of this disease varies from patient to patient, since many individuals do not fall into one specific disease category. The primary features displayed on a person with MERRF include myoclonus, seizures, cerebellar ataxia, myopathy, and ragged red fibers (RRF) on muscle biopsy, leading to the disease's name. Secondary features include dementia, optic atrophy, bilateral deafness, peripheral neuropathy, spasticity, or multiple lipomata. Mitochondrial disorders, including MERRFS, may present at any age.
Myogenesis is the formation of skeletal muscular tissue, particularly during embryonic development.
Vici syndrome, also called immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum, is a rare autosomal recessive congenital disorder characterized by albinism, agenesis of the corpus callosum, cataracts, cardiomyopathy, severe psychomotor retardation, seizures, immunodeficiency and recurrent severe infections. To date, about 50 cases have been reported.
Four and a half LIM domains protein 1 is a protein that in humans is encoded by the FHL1 gene.
Mitochondrially encoded tRNA leucine 1 (UUA/G) also known as MT-TL1 is a transfer RNA which in humans is encoded by the mitochondrial MT-TL1 gene.
Tropomyosin alpha-3 chain is a protein that in humans is encoded by the TPM3 gene.
Myotubularin is a protein that in humans is encoded by the MTM1 gene.
β-Tropomyosin, also known as tropomyosin beta chain is a protein that in humans is encoded by the TPM2 gene. β-tropomyosin is striated muscle-specific coiled coil dimer that functions to stabilize actin filaments and regulate muscle contraction.
Myosin-2 is a protein that in humans is encoded by the MYH2 gene.
Spartin is a protein that in humans is encoded by the SPG20 gene.
Iron-sulfur cluster assembly enzyme ISCU, mitochondrial is a protein that in humans is encoded by the ISCU gene. It encodes an iron-sulfur (Fe-S) cluster scaffold protein involved in [2Fe-2S] and [4Fe-4S] cluster synthesis and maturation. A deficiency of ISCU is associated with a mitochondrial myopathy with lifelong exercise intolerance where only minor exertion causes tachycardia, shortness of breath, muscle weakness and myalgia.
Danon disease is a metabolic disorder. Danon disease is an X-linked lysosomal and glycogen storage disorder associated with hypertrophic cardiomyopathy, skeletal muscle weakness, and intellectual disability. It is inherited in an X-linked dominant pattern.
Neutral lipid storage disease is a congenital autosomal recessive disorder characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues. It commonly occurs as one of two subtypes, cardiomyopathic neutral lipid storage disease (NLSD-M), or ichthyotic neutral lipid storage disease (NLSD-I) which is also known as Chanarin–Dorfman syndrome), which are characterized primarily by myopathy and ichthyosis, respectively. Normally, the ichthyosis that is present is typically non-bullous congenital ichthyosiform erythroderma which appears as white scaling.
Mitochondrially encoded tRNA glutamic acid also known as MT-TE is a transfer RNA which in humans is encoded by the mitochondrial MT-TE gene. MT-TE is a small 69 nucleotide RNA that transfers the amino acid glutamic acid to a growing polypeptide chain at the ribosome site of protein synthesis during translation.
Mitochondrially encoded tRNA lysine also known as MT-TK is a transfer RNA which in humans is encoded by the mitochondrial MT-TK gene.
Mitochondrially encoded tRNA tryptophan also known as MT-TW is a transfer RNA which in humans is encoded by the mitochondrial MT-TW gene.
Miller syndrome, also known as Genée–Wiedemann syndrome, Wildervanck–Smith syndrome or postaxial acrofacial dysostosis, is an extremely rare genetic condition that manifests as craniofacial, limb and eye deformities. It is caused by a mutation in the DHODH gene. The incidence of the condition is not known, and nothing is known about its pathogenesis.
Jean-Louis Mandel, born in Strasbourg on February 12, 1946, is a French medical doctor and geneticist, and heads a research team at the Institute of Genetics and Molecular and Cellular Biology (IGBMC). He has been in charge of the genetic diagnosis laboratory at the University Hospitals of Strasbourg since 1992, as well as a professor at the Collège de France since 2003.